1.
Southeast Asian J Trop Med Public Health
;
1999 ; 30 Suppl 2(): 58-60
Article
in English
| IMSEAR
| ID: sea-32429
ABSTRACT
Neonatal screening for phenylketonuria (PKU) in Mainland China was started late and is incomplete. At the present time, it only covers 1-2% of the whole nation. There are about 1,500-2,000 PKU patients born in China annually. In this study, 228 PKU patients who were followed in our hospital were reviewed. Only 19 (8.3%) patients were detected by neonatal screening. Two hundred and nine (91.7%) cases were defined by pediatricians at the age of 1 month to 22 years, among them 94.5% had mental retardation, 48.9% developed epilepsy, and 22.9% gave up the treatment because of financial difficulty and loss of confidence in recovery. To help all of the patients, the only feasible way is the popularization of nationwide screening.